Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K96R
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SNCA

NM_000345.4:p.K96R

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

Monitoring α-synuclein ubiquitination dynamics reveals key endosomal effectors mediating its trafficking and degradation.

Zenko D et al.

Science Advances, 2023

The Ala53Thr Mutation in the α-Synuclein Gene in an Indian Patient with Young-Onset Parkinson's Disease.

Pandey S et al.

Movement Disorders Clinical Practice, 2021

A population scale analysis of rare SNCA variation in the UK Biobank.

Blauwendraat C et al.

Neurobiology of Disease, 2021

33307186 (PubMed )
Supplement: NIHMS1657197-supplement-mmc4.xls › Sup_Table_1

Systematic Analysis of the Genetic Variability That Impacts SUMO Conjugation and Their Involvement in Human Diseases.

Xu HD et al.

Scientific Reports, 2015

Interplay between sumoylation and phosphorylation for protection against α-synuclein inclusions.

Shahpasandzadeh H et al.

The Journal of Biological Chemistry, 2014

Systematic comparison of the effects of alpha-synuclein mutations on its oligomerization and aggregation.

Lázaro DF et al.

Plos Genetics, 2014

[The effect of small ubiquitin-like modifier-1 modification on the formation of Lewy body-like inclusions in cytoplasm and apoptosis of HEK293 cell induced by overexpression and mutation of alpha-synuclein].

Chen T et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011

Sumoylation inhibits alpha-synuclein aggregation and toxicity.

Krumova P et al.

The Journal of Cell Biology, 2011

[Effect of SUMO-1 on mitochondria subcellular localization of alpha-synuclein and its degradation via ubiquitin-proteasome system].

Chen T et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010

Monoubiquitylation of alpha-synuclein by seven in absentia homolog (SIAH) promotes its aggregation in dopaminergic cells.

Rott R et al.

The Journal of Biological Chemistry, 2008

Small ubiquitin-like modifier (SUMO) modification of natively unfolded proteins tau and alpha-synuclein.

Dorval V et al.

The Journal of Biological Chemistry, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."